Search Results - "Bruno Rinaldi"
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1
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
Published in The Journal of clinical investigation (01-12-2017)“…Regulation of skeletal muscle development and organization is a complex process that is not fully understood. Here, we focused on amphiphysin 2 (BIN1, also…”
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2
Poly(ADP-ribose) Polymerase-2 (PARP-2) Is Required for Efficient Base Excision DNA Repair in Association with PARP-1 and XRCC1
Published in The Journal of biological chemistry (21-06-2002)“…The DNA damage dependence of poly(ADP-ribose) polymerase-2 (PARP-2) activity is suggestive of its implication in genome surveillance and protection. Here we…”
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3
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
Published in PLoS genetics (01-10-2012)“…Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the…”
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4
Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins
Published in Journal of cell science (15-02-2015)“…Ent3 and Ent5 are yeast epsin N-terminal homology (ENTH) domain-containing proteins involved in protein trafficking between the Golgi and late endosomes. They…”
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5
Cex1 is a component of the COPI intracellular trafficking machinery
Published in Biology open (22-03-2021)“…COPI (coatomer complex I) coated vesicles are involved in Golgi-to-ER and intra-Golgi trafficking pathways, and mediate retrieval of ER resident proteins…”
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6
Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants
Published in PloS one (25-02-2014)“…The formation and budding of endoplasmic reticulum ER-derived vesicles depends on the COPII coat protein complex that was first identified in yeast…”
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7
Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis
Published in PloS one (08-04-2013)“…The spatial and temporal regulation of actin polymerization is crucial for various cellular processes. Members of the Wiskott-Aldrich syndrome protein (WASP)…”
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8
Brewing of craft beer enriched with freeze-dried cape gooseberry: a promising source of antioxidants
Published in Brazilian Journal of Food Technology (2022)“…Abstract The craft beer segment has been driving the beverage market due to the many different formulation possibilities. Among craft beers, fruity beers…”
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9
Structure of a d(TGGGGT) quadruplex crystallized in the presence of Li+ ions
Published in Acta crystallographica. Section D, Biological crystallography. (01-06-2007)“…A parallel 5′‐d(TGGGGT)‐3′ quadruplex was formed in Na+ solution and crystallized using lithium sulfate as the main precipitating agent. The X‐ray structure…”
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10
Silagem de bagaço de maçã com diferentes períodos de pré-secagem na ensilagem
Published in Scientific electronic archives (28-08-2024)“…O trabalho teve como objetivo avaliar as silagens produzidas com bagaço de maçã com diferentes períodos de pré-secagem para ensilagem. Os tratamentos foram as…”
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11
Características estruturais da Aveia Preta e Azevém adubadas com diferentes composições de adubos químicos
Published in Scientific electronic archives (29-02-2024)“…Um dos principais fatores que proporcionam a degradação das pastagens é a baixa fertilidade do solo, sendo que as deficiências de macronutrientes, como…”
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12
Aspectos físico-químicos da adubação silicatada foliar em alface
Published in Scientific electronic archives (28-08-2024)“…O objetivo deste trabalho foi investigar o uso de diferentes doses de silicato de potássio sobre os aspectos físico-químicos e da qualidade da alface,…”
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13
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
Published in The Journal of experimental medicine (07-12-2020)“…The Nck-associated protein 1-like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage-specific regulator of…”
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14
Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes
Published in Molecular biology of the cell (15-10-2012)“…Multivesicular endosomes (MVBs) are major sorting platforms for membrane proteins and participate in plasma membrane protein turnover, vacuolar/lysosomal…”
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15
A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia
Published in Movement disorders (01-02-2022)“…ABSTRACT Background The dystonias are a heterogeneous group of hyperkinetic disorders characterized by sustained or intermittent muscle contractions that cause…”
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16
Brewing of craft beer enriched with freezedried cape gooseberry: a promising source of antioxidants
Published in Revista brasileira de tecnologia de alimentos (01-01-2022)“…The craftbeer segment has been driving the beverage market due to the many different formulation possibilities. Among craftbeers, fruity beers provide the…”
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17
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
Published in Proceedings of the National Academy of Sciences - PNAS (31-10-2017)“…The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes…”
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18
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy
Published in Human mutation (01-10-2019)“…Mutations in genes encoding aminoacyl‐tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl‐tRNA synthetase and…”
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19
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Published in Journal of neurology (01-02-2019)“…Objective To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to…”
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20
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
Published in Human molecular genetics (01-10-2017)“…Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different…”
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